gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89720189T>G , CM000666.2:g.89720189T>G | GRCh38 |
| NC_000004.11:g.90641340T>G , CM000666.1:g.90641340T>G | GRCh37 |
| NC_000004.10:g.90860363T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673902.1:c.390+9005A>C | ENSP00000501102.1:n.390+9005A>C | |
| XR_938982.1:n.3738-84T>G | ||
| XR_938984.1:n.3138-84T>G | ||
| XR_938985.1:n.2170-84T>G | ||
| XR_938986.1:n.804-84T>G | ||
| XR_938987.1:n.1058-84T>G | ||
| XR_938988.1:n.924-84T>G | ||
| XR_938989.1:n.580-84T>G | ||
| XR_938990.1:n.668-84T>G | ||
| XR_938991.1:n.683-84T>G | ||
| XR_938993.1:n.685-84T>G | ||
| XR_938994.1:n.1149-84T>G | ||
| XR_938995.1:n.983-84T>G | ||
| XR_001741765.1:n.3156-84T>G | ||
| XR_001741766.1:n.1928-84T>G | ||
| XR_938982.2:n.3738-84T>G | ||
| XR_938984.2:n.3160-84T>G | ||
| XR_938985.2:n.2192-84T>G | ||
| XR_938986.2:n.829-84T>G | ||
| XR_938987.2:n.1118-84T>G | ||
| XR_938989.2:n.602-84T>G |